| Summary: | 碩士 === 國立陽明大學 === 公共衛生研究所 === 93 === In this study, we genotyped 103 patients with esophageal squamous cell carcinoma (ESC) and 299 controls for the Survivin K129E, AIK F31I, V57I and INS polymorphisms to examine whether the Survivin or Aurora/Ipl1-like kinase (AIK) variations may affect individual susceptibility to the occurrence and aggression of ESC.
In cases and controls, rare allele frequencies were 0.189 and 0.224 for Survivin K129, 0.311 and 0.314 for AIK I31, 0.116 and 0.107 for V57 and 0.112 and 0.112 for INS, respectively. There were no significant differences in the genotype frequencies for survivin K129E, I31F, V57I and INS between cases and controls. For AIK polymorphisms, haplotype analysis revealed eight haplotypes with frequencies between and, with L-I-V the most common. We find that the genotype frequency for S-I-I is 3.8 folds higher than L-I-V (OR=3.8 95%CI=1.1-13.5), and S-I-I genotype has higher protective effect than L-I-V genotype (OR=0.3 95%=0.2-0.6). By linkage analysis between INS、I31F、V57I, the results showed that there were linkage disequilibrium between V57I and INS(D’=0. 807, p<0.0001). By studying the AIK INS-V57I genotype further, the results showed that the risk of S-I genotype is 1.5 folds higher than L-V genotype (OR=1.5 95%=1.1-2.1); the S-I genotype has higher protective effect than L-V genotype (OR=0.4 95%=0.3-0.7); the L-I genotype has higher protective effect than L-V genotype(OR=0.6 95%=0.4-0.9). This indicates that AIK INS-V57I(S-I) genotype could be a susceptibility factor for esophageal squamous cell carcinoma, while AIK INS-V57I(S-V) could be a protective factor for esophageal squamous cell carcinoma.
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